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Symbol
Name
ID

Hspg2
perlecan (heparan sulfate proteoglycan 2)
MGI:96257

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Calvarial skull defect

Micrognathia

Trismus

Malar flattening

Microcephaly

Wormian bones

Encephalocele

Occipital encephalocele

Short neck

Bowing of the long bones

Anterior bowing of long bones

Bowing of the legs

Genu valgum

Clubbing of fingers

Flexion contracture of toe

Abnormal femoral epiphysis morphology

Coxa valga

Coxa vara

Metatarsus valgus

Abnormal metaphysis morphology

Metaphyseal widening

Protrusio acetabuli

Hip contracture

Congenital hip dislocation

Joint contracture of the hand

Elbow dislocation

Wrist flexion contracture

Limb undergrowth

Micromelia

Pterygium

Flexion contracture

Arthrogryposis multiplex congenita

Shoulder flexion contracture

Limitation of joint mobility

Joint stiffness

Delayed skeletal maturation

Abnormal epiphysis morphology

Broad long bones

Short long bone

Hypoplastic ilia

Squared iliac bones

Hypoplastic ischia

Hypoplastic pubic bone

Hip dysplasia

Abnormal rib morphology

Short ribs

Sprengel anomaly

Pectus carinatum

Pectus excavatum

Thoracic hypoplasia

Narrow chest

Cervical kyphosis

Abnormally straight spine

Hyperlordosis

Lumbar hyperlordosis

Kyphosis

Kyphoscoliosis

Scoliosis

Anisospondyly

Platyspondyly

Coronal cleft vertebrae

Abnormally ossified vertebrae

Spinal rigidity

Increased bone mineral density

Osteoporosis

Skeletal dysplasia

Disease(s) Associated with HSPG2

Schwartz-Jampel syndrome 1

Silverman-Handmaker type dyssegmental dysplasia

Mouse Phenotypes

skeleton phenotype

decreased chondrocyte proliferation

wide cranial sutures

abnormal cranium morphology

decreased cranium height

absent frontal bone

abnormal occipital bone morphology

absent parietal bone

abnormal sphenoid bone morphology

absent neurocranium

abnormal ethmoid bone morphology

short mandible

short nasal bone

domed cranium

increased osteoclast cell number

abnormal osteoclast morphology

osteoarthritis

abnormal humerus morphology

bowed humerus

increased diameter of humerus

abnormal femur head morphology

abnormal femur neck morphology

short femur neck

short femur

abnormal skeleton morphology

abnormal long bone morphology

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

increased width of hypertrophic chondrocyte zone

disorganized long bone epiphyseal plate

abnormal long bone epiphysis morphology

abnormal long bone metaphysis morphology

decreased length of long bones

increased diameter of long bones

abnormal sternum morphology

abnormal pelvic girdle bone morphology

abnormal rib morphology

abnormal vertebral column morphology

abnormal intervertebral disk development

abnormal spine curvature

abnormal vertebral body morphology

enlarged vertebral body

abnormal bone structure

abnormal bone marrow cavity morphology

abnormal bone marrow morphology

increased compact bone thickness

abnormal trabecular bone morphology

abnormal cartilage morphology

abnormal cartilage development

abnormal chondrocyte morphology

abnormal joint morphology

chondrodystrophy

abnormal bone ossification

decreased bone mineralization

abnormal endochondral bone ossification

delayed bone ossification

Availability

Mouse Genotype

Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr

*

Hspg2^tm1.1Soni/Hspg2^tm1.1Soni

Hspg2^tm1Nid/Hspg2^tm1Nid

Hspg2^tm1Rdgr/Hspg2^tm1Rdgr

Hspg2^tm1Ref/Hspg2^tm1Ref

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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